Two decades ago, the sequence of the first human genome was published. Since then,
advances in genome technologies have resulted in whole-genome sequencing and …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The
list of monogenic forms of ID has increased rapidly in recent years thanks to the …

Intellectual disability (ID) is a neurodevelopmental condition affecting 1–3% of the world's
population. Genetic factors play a key role causing the congenital limitations in intellectual …

Here, we present a large (n= 107,207) genome-wide association study (GWAS) of general
cognitive ability (" g"), further enhanced by combining results with a large-scale GWAS of …

Background New noninvasive and affordable molecular approaches that will complement
current practices and increase the accuracy of Parkinson's disease (PD) diagnosis are …

Retrograde transport from endosomes to the trans-Golgi network (TGN) diverts proteins and
lipids away from lysosomal degradation. It is essential for maintaining cellular homeostasis …